Producto | Tipo de test | Genes |
---|---|---|
Neuroblastoma | Gen NGS | ALK |
Neurodegeneración asociada a la... | Gen NGS | FAHN2 |
Neurodegeneración de con acumulación... | Gen NGS | C19orf12 |
Neurofibromatosis | Panel NGS | NF1, NF2, SPRED1, SMARCB1 |
Neurofibromatosis tipo 1 | Gen NGS | NF1 |
Neurofibromatosis tipo 1 | Detección de deleciones/duplicaciones | NF1 |
Neurofibromatosis tipo 2 | Gen NGS | NF2 |
Neurogenina Tipo 3 | Gen NGS | NEUROG3 |
Neuropatía Auditiva | Gen NGS | DIAPH3 |
Neuropatía Charcot-Marie-Tooth tipo 2B2 | Gen NGS | MED25 |
Neuropatía Charcot-Marie-Tooth tipo 2L | Gen NGS | HSPB8 |
Neuropatía Charcot-Marie-Tooth tipo 2N | Gen NGS | AARS |
Neuropatía Charcot-Marie-Tooth tipo 2O | Gen NGS | DYNC1H1 |
Neuropatía Charcot-Marie-Tooth tipo 2P | Gen NGS | LRSAM1 |
Neuropatía con discapacidad auditiva | Gen NGS | GJB3 |
Neuropatía Hereditaria axonal | Exoma Dirigido | PMP22, MPZ, EGR2, SOX10, SIMPLE/LITAF, ARHGEF10, GDAP1, MTMR2, SBF2/MTMR13, KIAA1985, NDRG1, PRX, MFN2, KIF1B, RAB7, GARS, NEFL, HSPB1, HSPB8, LMNA, GAN1, KCC3, TDP1, APTX, SETX, GLB1, DNM2, DHH, TRPV4 |
Paneles de Enfermedades Mitocondriales